Seroatlas · Human Serome Atlas

KLHL41

Kelch-like protein 41

Also known as: KBTBD10, KLH41_HUMAN, Krp1, SARCOSIN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O60662
Gene
KLHL41
Ensembl
ENSG00000239474
Chromosome
2
Canonical length
606 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Plasma membrane,Cytosol

OverviewNCBI Gene

This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]

Canonical amino-acid sequenceUniProt

606 residues, UniProt reviewed canonical sequence.

>O60662|KLHL41
     1  MDSQRELAEE LRLYQSTLLQ DGLKDLLDEK KFIDCTLKAG DKSLPCHRLI LSACSPYFRE
    61  YFLSEIDEAK KKEVVLDNVD PAILDLIIKY LYSASIDLND GNVQDIFALA SRFQIPSVFT
   121  VCVSYLQKRL APGNCLAILR LGLLLDCPRL AISAREFVSD RFVQICKEED FMQLSPQELI
   181  SVISNDSLNV EKEEAVFEAV MKWVRTDKEN RVKNLSEVFD CIRFRLMTEK YFKDHVEKDD
   241  IIKSNPDLQK KIKVLKDAFA GKLPEPSKNA AKTGAGEVNG DVGDEDLLPG YLNDIPRHGM
   301  FVKDLILLVN DTAAVAYDPT ENECYLTALA EQIPRNHSSI VTQQNQIYVV GGLYVDEENK
   361  DQPLQSYFFQ LDSIASEWVG LPPLPSARCL FGLGEVDDKI YVVAGKDLQT EASLDSVLCY
   421  DPVAAKWNEV KKLPIKVYGH NVISHKGMIY CLGGKTDDKK CTNRVFIFNP KKGDWKDLAP
   481  MKIPRSMFGV AVHKGKIVIA GGVTEDGLSA SVEAFDLTTN KWDVMTEFPQ ERSSISLVSL
   541  AGSLYAIGGF AMIQLESKEF APTEVNDIWK YEDDKKEWAG MLKEIRYASG ASCLATRLNL
   601  FKLSKL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KLHL41 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
4,719 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 4,719 nTPM
  • tongue: 3,245 nTPM
  • heart muscle: 94 nTPM
  • esophagus: 71 nTPM
  • salivary gland: 51 nTPM
  • prostate: 47 nTPM

Single-cell type

  • thymic myoid cells: 492 nCPM
  • myosatellite cells: 70 nCPM
  • myonuclei: 70 nCPM
  • ependymal cells: 16 nCPM
  • pancreatic islet cells: 9.5 nCPM
  • choroid plexus epithelial cells: 8.1 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • thalamus: 13 nTPM
  • cerebellum: 8.3 nTPM
  • midbrain: 7.2 nTPM
  • cerebral cortex: 5.6 nTPM
  • amygdala: 5.4 nTPM
  • hypothalamus: 5.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KLHL41.

Disease | AllUniProt

Conditions KLHL41 is implicated in, by any mechanism.

Disease | GeneticClinVar

32 pathogenic / likely-pathogenic of 359 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.8
gnomAD pLI
0
gnomAD missense Z
0.89
DepMap mean gene effect
-0.03
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KLHL41 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KLHL41 as an antibody target. Whether an autoantibody or antibody against KLHL41 could matter depends on whether native KLHL41 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KLHL41 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label KLHL41 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KLHL41. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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